p.Glu23 Glu24insLysGlu variant of ALMS1 (Q8TCU4)
p.Glu23 Glu24insLysGlu in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu23 Glu24insLysGlu variant details
- rs1558624579
- gnomAD 2-73385932-G-GAGG
- Inframe Insertion
- CADD 10.20
- Population evidence available
- Literature evidence available